R24Q (p.Arg24Gln) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
R24Q (p.Arg24Gln) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
R24Q (p.Arg24Gln) variant details
- p.Arg24Gln
- rs1212776156
- ClinGen CA359018595
- ClinVar RCV001934027
- TOPMed rs1212776156
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.07
- REVEL 0.02
- CADD 9.92
- PolyPhen-2 0.03
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available